{
    "disease_id": "DOID:0060777",
    "recommended_name": {
        "id": "DOID:0060777",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060777",
        "name": "congenital secretory sodium diarrhea 8",
        "description": "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15."
    },
    "synonyms": [
        {
            "id": "DOID:0060777",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060777",
            "name": "DIAR8",
            "description": ""
        },
        {
            "id": "MONDO:0014808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014808",
            "name": "congenital secretory sodium diarrhea 8",
            "description": "Any secretory diarrhea in which the cause of the disease is a mutation in the SLC9A3 gene."
        },
        {
            "id": "MONDO:0014808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014808",
            "name": "DIAR8",
            "description": ""
        },
        {
            "id": "MONDO:0014808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014808",
            "name": "SLC9A3 secretory diarrhea",
            "description": ""
        },
        {
            "id": "MONDO:0014808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014808",
            "name": "SLC9A3 secretory diarrhoea",
            "description": ""
        },
        {
            "id": "MONDO:0014808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014808",
            "name": "congenital secretory sodium diarrhea type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014808",
            "name": "congenital secretory sodium diarrhoea type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014808",
            "name": "diarrhea 8, secretory sodium, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0014808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014808",
            "name": "diarrhoea 8, secretory sodium, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0014808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014808",
            "name": "secretory diarrhea caused by mutation in SLC9A3",
            "description": ""
        },
        {
            "id": "MONDO:0014808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014808",
            "name": "secretory diarrhoea caused by mutation in SLC9A3",
            "description": ""
        },
        {
            "id": "MIM:616868",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616868",
            "name": "Diarrhea 8, secretory sodium, congenital",
            "description": "Diarrhea 8, secretory sodium, congenital"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060777"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060777",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060777",
            "categories": []
        },
        {
            "id": "MONDO:0014808",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014808",
            "categories": []
        },
        {
            "id": "MIM:616868",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616868",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "G3X939-1",
            "uniprot_ac": "G3X939",
            "uniprot_id": "SL9A3_MOUSE",
            "refseq_ac": "NP_001074529",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger 3",
                    "type": "recommended"
                },
                {
                    "name": "sodium/hydrogen exchanger 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc9a3",
                    "type": "recommended"
                },
                {
                    "name": "9030624O13Rik",
                    "type": "synonym"
                },
                {
                    "name": "NHE-3",
                    "type": "synonym"
                },
                {
                    "name": "NHE3",
                    "type": "synonym"
                },
                {
                    "name": "Slc9a3",
                    "type": "synonym"
                }
            ],
            "record_id": "G3X939-1",
            "evidence": [
                {
                    "id": "0060777",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060777"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48764-1",
            "uniprot_ac": "P48764",
            "uniprot_id": "SL9A3_HUMAN",
            "refseq_ac": "NP_001271280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger 3",
                    "type": "recommended"
                },
                {
                    "name": "NHE-3",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchanger 3",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 member 3",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 3 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 (sodium/hydrogen exchanger), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC9A3",
                    "type": "recommended"
                },
                {
                    "name": "DIAR8",
                    "type": "synonym"
                },
                {
                    "name": "NHE-3",
                    "type": "synonym"
                },
                {
                    "name": "NHE3",
                    "type": "synonym"
                },
                {
                    "name": "SLC9A3",
                    "type": "synonym"
                }
            ],
            "record_id": "P48764-1",
            "evidence": [
                {
                    "id": "616868",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616868"
                },
                {
                    "id": "0060777",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060777"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26433-1",
            "uniprot_ac": "P26433",
            "uniprot_id": "SL9A3_RAT",
            "refseq_ac": "NP_001400969",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger 3",
                    "type": "recommended"
                },
                {
                    "name": "NHE-3",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/H(+) exchanger 3",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 (sodium/hydrogen exchanger 3), antiporter 3, Na+/H+ (amiloride insensitive)",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 9 member 3",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane ion transport protein",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sodium/hydrogen exchanger 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 (sodium/hydrogen exchanger), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9 member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc9a3",
                    "type": "recommended"
                },
                {
                    "name": "Nhe3",
                    "type": "synonym"
                },
                {
                    "name": "Slc9a3",
                    "type": "synonym"
                }
            ],
            "record_id": "P26433-1",
            "evidence": [
                {
                    "id": "0060777",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060777"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7YZY2-1",
            "uniprot_ac": "B7YZY2",
            "uniprot_id": "B7YZY2_DROME",
            "refseq_ac": "NP_001137851",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/hydrogen exchanger",
                    "type": "recommended"
                },
                {
                    "name": "CG9256-PG",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]/H[+] hydrogen exchanger 2, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Nhe2-PG",
                    "type": "synonym"
                },
                {
                    "name": "drosophila sodium-proton exchanger 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nhe2",
                    "type": "recommended"
                },
                {
                    "name": "CG9255",
                    "type": "synonym"
                },
                {
                    "name": "CG9256",
                    "type": "synonym"
                },
                {
                    "name": "DNhe2",
                    "type": "synonym"
                },
                {
                    "name": "DmNHE2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9256",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9256",
                    "type": "synonym"
                },
                {
                    "name": "Dnhe2",
                    "type": "synonym"
                },
                {
                    "name": "NHE2",
                    "type": "synonym"
                },
                {
                    "name": "Nhe2",
                    "type": "synonym"
                },
                {
                    "name": "dNhe2",
                    "type": "synonym"
                },
                {
                    "name": "nhe2",
                    "type": "synonym"
                }
            ],
            "record_id": "B7YZY2-1",
            "evidence": [
                {
                    "id": "0060777",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060777"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02790-1",
            "uniprot_ac": "Q02790",
            "uniprot_id": "FKBP4_HUMAN",
            "refseq_ac": "NP_002005",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidyl-prolyl cis-trans isomerase FKBP4",
                    "type": "recommended"
                },
                {
                    "name": "5.2.1.8",
                    "type": "synonym"
                },
                {
                    "name": "51 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "52 kDa FK506-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "52 kDa FKBP",
                    "type": "synonym"
                },
                {
                    "name": "59 kDa immunophilin",
                    "type": "synonym"
                },
                {
                    "name": "FK506 binding protein 4, 59kDa",
                    "type": "synonym"
                },
                {
                    "name": "FK506-binding protein 4",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-4",
                    "type": "synonym"
                },
                {
                    "name": "FKBP-52",
                    "type": "synonym"
                },
                {
                    "name": "FKBP51",
                    "type": "synonym"
                },
                {
                    "name": "FKBP59",
                    "type": "synonym"
                },
                {
                    "name": "HBI",
                    "type": "synonym"
                },
                {
                    "name": "HSP binding immunophilin",
                    "type": "synonym"
                },
                {
                    "name": "HSP-binding immunophilin",
                    "type": "synonym"
                },
                {
                    "name": "Immunophilin FKBP52",
                    "type": "synonym"
                },
                {
                    "name": "PPIase FKBP4",
                    "type": "synonym"
                },
                {
                    "name": "Rotamase",
                    "type": "synonym"
                },
                {
                    "name": "T-cell FK506-binding protein, 59kD",
                    "type": "synonym"
                },
                {
                    "name": "p59",
                    "type": "synonym"
                },
                {
                    "name": "peptidyl-prolyl cis-trans isomerase FKBP4",
                    "type": "synonym"
                },
                {
                    "name": "peptidylprolyl cis-trans isomerase",
                    "type": "synonym"
                },
                {
                    "name": "rotamase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKBP4",
                    "type": "recommended"
                },
                {
                    "name": "FKBP4",
                    "type": "synonym"
                },
                {
                    "name": "FKBP51",
                    "type": "synonym"
                },
                {
                    "name": "FKBP52",
                    "type": "synonym"
                },
                {
                    "name": "FKBP59",
                    "type": "synonym"
                },
                {
                    "name": "HBI",
                    "type": "synonym"
                },
                {
                    "name": "Hsp56",
                    "type": "synonym"
                },
                {
                    "name": "PPIase",
                    "type": "synonym"
                },
                {
                    "name": "p52",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02790-1",
            "evidence": [
                {
                    "id": "0060777",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060777"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060777"
}